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image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Human Geneticsarrow_drop_down
image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
Human Genetics
Article . 1986 . Peer-reviewed
License: Springer TDM
Data sources: Crossref
Human Genetics
Article . 1986
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Juvenile Huntington disease

Authors: J G, van Dijk; E A, van der Velde; R A, Roos; G W, Bruyn;

Juvenile Huntington disease

Abstract

Of 195 cases of juvenile Huntington disease gathered from case descriptions, the sex, age at onset, duration of disease, clinical type, sex of the affected parent, as well as sex, mean age at onset and at death of adult cases in the same pedigrees were noted when available, and the data were investigated for evidence of relationships between different features. Examination of a subset of 112 cases showed a preponderance of rigid cases, whose affected parent proved to be the father in a significantly high number of cases. Rigid paternal cases had a significantly lower age at onset, as well as a shorter duration of disease than choreatic paternal cases. No such relationship exists between rigid maternal and choreatic maternal cases. In rigid cases duration of disease proved to be shorter for those with a lower age at onset. Female juvenile cases tended to have a lower age at onset than male ones, regardless of clinical type or sex of the affected parent. The mean ages at onset and at death of adult members of the same pedigrees were not related to clinical type or age at onset of juvenile cases. It is argued that juvenile Huntington disease should not be regarded as a separate clinical entity, but as a manifestation of the rigid variant of the disease.

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Keywords

Adult, Male, Adolescent, Age Factors, Pedigree, Huntington Disease, Sex Factors, Child, Preschool, Humans, Female, Child

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Powered by OpenAIRE graph
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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
102
Top 10%
Top 1%
Top 10%
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